Canonical Allele Identifier: CA413786640

Gene: CHM

Linked Data

• MyVariant Identifiers: chrX:g.85218780C>G (hg19) ; chrX:g.85963775C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85963775C>G , CM000685.2:g.85963775C>G	GRCh38
NC_000023.10:g.85218780C>G , CM000685.1:g.85218780C>G	GRCh37
NC_000023.9:g.85105436C>G	NCBI36
NG_009874.2:g.88788G>C , LRG_699:g.88788G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.592G>C MANE Select	ENSP00000350386.2:p.Glu198Gln
ENST00000357749.6:c.592G>C	ENSP00000350386.2:p.Glu198Gln
ENST00000467744.2:n.126+63716G>C
NM_000390.2:c.592G>C , LRG_699t1:c.592G>C	NP_000381.1:p.Glu198Gln
XM_006724615.2:c.529G>C	XP_006724678.1:p.Glu177Gln
XM_011530839.1:c.148G>C	XP_011529141.1:p.Glu50Gln
NM_000390.3:c.592G>C	NP_000381.1:p.Glu198Gln
NM_001320959.1:c.148G>C	NP_001307888.1:p.Glu50Gln
NM_001362517.1:c.148G>C	NP_001349446.1:p.Glu50Gln
NM_001362518.1:c.148G>C	NP_001349447.1:p.Glu50Gln
NM_001362519.1:c.148G>C	NP_001349448.1:p.Glu50Gln
XM_017029242.2:c.592G>C	XP_016884731.1:p.Glu198Gln
XM_017029246.1:c.148G>C	XP_016884735.1:p.Glu50Gln
XM_024452331.1:c.148G>C	XP_024308099.1:p.Glu50Gln
NM_000390.4:c.592G>C MANE Select	NP_000381.1:p.Glu198Gln
NM_001362518.2:c.148G>C	NP_001349447.1:p.Glu50Gln